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Updated: Apr 19, 2026

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Published on: March 23, 2022
Griscelli syndrome
H Ariffin1, A Geikowski2, T F Chin3
1University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia. hany@um.edu.my.
Abstract:
We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation.
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